A 5-year clinical follow-up study from the Italian National Registry for FSHD
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurology"
DOI: 10.1007/s00415-020-10144-7
Abstract: Background The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. Methods An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified… read more here.
Keywords: index cases; fshd score; fshd; study ... See more keywords
Reliability and validity of the FSHD-composite outcome measure in childhood facioscapulohumeral dystrophy
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.05.011
Abstract: This study aims to investigate intra-rater reliability and construct validity of the Facioscapulohumeral Dystrophy Composite Outcome Measure (FSHD-COM), in childhood FSHD. Participants included eighteen children with FSHD, and matched healthy controls. Reliability data were collected… read more here.
Keywords: fshd; validity; measure; reliability ... See more keywords
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2020-107041
Abstract: Background Facioscapulohumeral dystrophy (FSHD) is an inherited muscular dystrophy clinically characterised by muscle weakness starting with the facial and upper extremity muscles. A disease model has been developed that postulates that failure in somatic repression… read more here.
Keywords: dux4; fshd; disease; d4z4 repeat ... See more keywords
Are Antioxidants a Potential Therapy for FSHD? A Review of the Literature
Sign Up to like & getrecommendations! Published in 2017 at "Oxidative Medicine and Cellular Longevity"
DOI: 10.1155/2017/7020295
Abstract: Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy affecting approximately 1 in 7500 individuals worldwide. It is a progressive disease characterised by skeletal muscle weakness and wasting. A genetic mutation on the 4q35 chromosome results… read more here.
Keywords: potential therapy; antioxidants potential; fshd; use antioxidants ... See more keywords
Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study
Sign Up to like & getrecommendations! Published in 2019 at "BMC Neurology"
DOI: 10.1186/s12883-019-1452-x
Abstract: BackgroundFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes disease by a toxic-gain-of-function. As molecularly targeted drugs move from preclinical testing into human trials, it… read more here.
Keywords: clinical trial; drug development; fshd; trial ... See more keywords
Natural History of Facioscapulohumeral Dystrophy in Children
Sign Up to like & getrecommendations! Published in 2021 at "Neurology"
DOI: 10.1212/wnl.0000000000012882
Abstract: Background and Objectives Data on the natural history of facioscapulohumeral dystrophy (FSHD) in childhood are limited and critical for improved patient care and clinical trial readiness. Our objective was to describe the disease course of… read more here.
Keywords: natural history; fshd; facioscapulohumeral dystrophy; history facioscapulohumeral ... See more keywords
Baroreflex sensitivity in facioscapulohumeral muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Physiological Reports"
DOI: 10.14814/phy2.15277
Abstract: Facioscapulohumeral muscular dystrophy (FSHD), a common form of muscular dystrophy, is caused by a genetic mutation that alters DUX4 gene expression. This mutation contributes to significant skeletal muscle loss. Although it is suggested that cardiac… read more here.
Keywords: facioscapulohumeral muscular; people fshd; fshd controls; muscular dystrophy ... See more keywords
Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostics"
DOI: 10.3390/diagnostics11081469
Abstract: The true prevalence of facioscapulohumeral muscular dystrophy (FSHD) is unknown due to difficulties with accurate clinical evaluation and the complexities of current genetic diagnostics. Interestingly, all forms of FSHD are linked to epigenetic changes in… read more here.
Keywords: genomic sequencing; fshd; fshd1 fshd2; bisulfite genomic ... See more keywords
Does DNA Methylation Matter in FSHD?
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.3390/genes11030258
Abstract: Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the genetic and epigenetic molecular features of the CpG-rich D4Z4 repeat tandem array at 4q35. Reduced DNA methylation of D4Z4 repeats is considered part of the FSHD… read more here.
Keywords: methylation; fshd; d4z4; dna methylation ... See more keywords